Cardiac pathology in glycogen storage disease type III

JIMD Reports

Volumn 6, Issue , 2012, Pages 65-72

  Austin, S L ^a   Proia, A D ^a   Spencer Manzon, M J ^a   Butany, J ^b   Wechsler, S B ^a   Kishnani, P S ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b TORONTO GENERAL HOSPITAL   (Canada)

Author keywords

Cardiac fibrosis; Cardiac involvement; Glycogen storage disease; Hypertrophic cardiomyopathy; Pompe disease

Indexed keywords

EID: 85030464016     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2011_118     Document Type: Chapter

References (32)

1. Akazawa H, Kuroda T et al (1997) Specific heart muscle disease associated with glycogen storage disease type III: clinical similarity to the dilated phase of hypertrophic cardiomyopathy. Eur Heart J 18(3):532–533
2. Ansong AK, Li JS et al (2006) Electrocardiographic response to enzyme replacement therapy for Pompe disease. Genet Med 8(5): 297–301
3. Arad M, Benson DW et al (2002) Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest 109(3):357–362
4. Arad M, Moskowitz IP et al (2003) Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy. Circulation 107 (22):2850–2856
5. Arad M, Maron BJ et al (2005) Glycogen storage diseases presenting as hypertrophic cardiomyopathy. N Engl J Med 352(4): 362–372
6. Barker PC, Pasquali SK et al (2010) Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy. Mol Genet Metab 101(4):332–337
7. Bharati S, Serratto M et al (1982) The conduction system in Pompe’s disease. Pediatr Cardiol 2(1):25–32
8. Carvalho JS, Matthews EE et al (1993) Cardiomyopathy of glycogen storage disease type III. Heart Vessels 8(3):155–159
9. Chen YT, Kishnani PS et al (2009) Glycogen storage diseases. In: Valle D, Beaudet A, Vogelstein B et al (eds) Scriver’s online metabolic & molecular bases of inherited disease. McGraw-Hill, New York
10. Cochrane AB, Fedson SE et al (2007) Nesiritide as bridge to multi-organ transplantation: a case report. Transplant Proc 39(1): 308–310
11. Coleman RA, Winter HS et al (1992) Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features. J Inherit Metab Dis 15(6):869–881
12. Dagli AI, Zori RT et al (2009) Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. J Inherit Metab Dis
13. Dritsas A, Sbarouni E et al (1992) QT-interval abnormalities in hypertrophic cardiomyopathy. Clin Cardiol 15(10):739–742
14. Gillette PC, Nihill MR et al (1974) Electrophysiological mechanism of the short PR interval in Pompe disease. Am J Dis Child 128 (5):622–626
15. Ingle SA, Moulick ND et al (2004) Hepatocellular failure in glycogen storage disorder type 3. J Assoc Physicians India 52:158–160
16. Kishnani PS, Austin SL et al (2010) Glycogen storage disease type III diagnosis and management guidelines. Genet Med 12 (7):446–463
17. Lee P, Burch M et al (1995) Plasma creatine kinase and cardiomyopathy in glycogen storage disease type III. J Inherit Metab Dis 18(6):751–752
18. McDowell R, Li JS et al (2008) Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease. Genet Med 10(10):758–762
19. Miller CG, Alleyne GA et al (1972) Gross cardiac involvement in glycogen storage disease type 3. Br Heart J 34(8):862–864
20. Moon JC, Mundy HR et al (2003) Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III. Circulation 107(7):e47
21. Moses SW, Wanderman KL et al (1989) Cardiac involvement in glycogen storage disease type III. Eur J Pediatr 148(8): 764–766
22. Olson LJ, Reeder GS et al (1984) Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. Am J Cardiol 53(7):980–981
23. Portmann B, Thompson R et al (eds) (2007) Genetic and metabolic liver disease. Churchill Livingstone, London
24. Seifert BL, Snyder MS et al (1992) Development of obstruction to ventricular outflow and impairment of inflow in glycogen storage disease of the heart: serial echocardiographic studies from birth to death at 6 months. Am Heart J 123(1):239–242
25. Shirani J, Pick R et al (2000) Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death. J Am Coll Cardiol 35(1):36–44
26. Slonim AE, Weisberg C et al (1982) Reversal of debrancher deficiency myopathy by the use of high-protein nutrition. Ann Neurol 11(4):420–422
27. Slonim AE, Coleman RA et al (1984) Myopathy and growth failure in debrancher enzyme deficiency: improvement with high-protein nocturnal enteral therapy. J Pediatr 105(6):906–911
28. Tada H, Kurita T et al (1995) Glycogen storage disease type III associated with ventricular tachycardia. Am Heart J 130(4): 911–912
29. Talente GM, Coleman RA et al (1994) Glycogen storage disease in adults. Ann Intern Med 120(3):218–226
30. Vertilus SM, Austin SL et al (2010) Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. Genet Med 12(7):413–423
31. Yanovitch TL, Banugaria SG et al (2010) Clinical and histologic ocular findings in Pompe disease. J Pediatr Ophthalmol Strabismus 47(1):34–40
32. Yi G, Elliott P et al (1998) QT dispersion and risk factors for sudden cardiac death in patients with hypertrophic cardiomyopathy. Am J Cardiol 82(12):1514–1519